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Number of items: 96.

West, Hannah, Coffey, Michelle, Wagner, Michael J., McLeod, Howard L., Colley, James P., Adams, Richard A., Fleck, Oliver, Maughan, Timothy S., Fisher, David, Kaplan, Richard S., Harris, Rebecca and Cheadle, Jeremy 2018. Role for nucleotide-excision repair gene variants in oxaliplatin-induced peripheral neuropathy. JCO Precision Oncology 10.1200/PO.18.00090
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Madi, Ayman, Fisher, David, Maughan, Timothy S., Colley, James P., Meade, Angela M., Maynard, Julie, Humphreys, Vikki, Wasan, Harpreet, Adams, Richard A., Idziaszczyk, Shelley, Harris, Rebecca, Kaplan, Richard S. and Cheadle, Jeremy P. 2018. Pharmacogenetic analyses of 2,183 patients with advanced colorectal cancer; Potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy. European Journal of Cancer 102 , pp. 31-39. 10.1016/j.ejca.2018.07.009
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Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness-Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti-Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark A., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo and Aaltonen, Lauri A. 2018. Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. International Journal of Cancer 142 (3) , pp. 540-546. 10.1002/ijc.31076
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Gray, Victoria, Briggs, S, Palles, C, Jaegar, E, Iveson, T, Kerr, R, Saunders, M, Paul, J, Harkin, A, McQueen, J, Summers, M, Johnstone, E, Wang, H, Gatcombe, L, Maughan, T, Kaplan, R, Escott-Price, Valentina, Al-Tassan, N, Meyer, B, Wakil, S, Houlston, R, Cheadle, Jeremy, Tomlinson, I and Church, D 2018. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute
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May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P., Tomlinson, Ian P., Dunlop, Malcolm G. and Houlston, Richard S. 2017. Pro-inflammatory fatty acid profile and colorectal cancer risk: a Mendelian randomisation analysis. European Journal of Cancer 84 , pp. 228-238. 10.1016/j.ejca.2017.07.034

Summers, Matthew, Smith, Chris, Maughan, Timothy, Kaplan, Rick, Escott-Price, Valentina and Cheadle, Jeremy Peter 2017. BRAF and NRAS locus-specific variants have different outcomes on survival to colorectal cancer. Clinical Cancer Research 23 (11) , pp. 2742-2749. 10.1158/1078-0432.CCR-16-1541
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Rodriguez-Broadbent, Henry, Law, Philip J., Sud, Amit, Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Ripatti, Samuli, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy Peter, Tomlinson, Ian P., Dunlop, Malcolm G. and Houlston, Richard S. 2017. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. International Journal of Cancer 140 (12) , pp. 2701-2708. 10.1002/ijc.30709
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Cheadle, Jeremy Peter 2017. Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab. Journal of Medical Genetics 2017 (54) , pp. 567-571. 10.1136/jmedgenet-2016-104317
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Seligmann, J.F., Fisher, D., Smith, C. G., Richman, S.D., Elliott, F., Brown, S., Adams, Richard, Maughan, T., Quirke, P., Cheadle, Jeremy, Seymour, M. and Middleton, G. 2016. Investigating the poor outcomes of BRAF-mutant advanced colorectal cancer: Analysis from 2530 patients in randomised clinical trials. Annals of Oncology 28 (3) , pp. 562-568. 10.1093/annonc/mdw645
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Jarvis, David, Mitchell, Jonathan S., Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hanninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Jarvinen, Heikki, Renkonen-Sinisalo, Laura, Lepisto, Anna, Bohm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M., Mimofeeva, Maria N., Meyer, Brian ., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy, Kaplan, Richard, Kerr, Rachel, Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Aaltonen, Lauri A., Cheadle, Jeremy, Dunlop, Malcolm G., Tomlinson, Ian P. and Houlston, Richard S. 2016. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer. British Journal of Cancer 115 , pp. 266-272. 10.1038/bjc.2016.188
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Orlando, Giulia, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan, Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy Stanley, Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Cheadle, Jeremy Peter, Dunlop, Malcolm G., Tomlinson, Ian P., Aaltonen, Lauri A. and Houlston, Richard S. 2016. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Human Molecular Genetics 25 (11) , pp. 2349-2359. 10.1093/hmg/ddw087
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Phipps, Amanda I., Passarelli, Michael N., Chan, Andrew T., Harrison, Tabitha A., Jeon, Jihyoun, Hutter, Carolyn M., Berndt, Sonja I., Brenner, Hermann, Caan, Bette J., Campbell, Peter T., Chang-Claude, Jenny, Chanock, Stephen J., Cheadle, Jeremy Peter, Curtis, Keith R., Duggan, David, Fisher, David, Fuchs, Charles S., Gala, Manish, Giovannucci, Edward L., Hayes, Richard B., Hoffmeister, Michael, Hsu, Li, Jacobs, Eric J., Jansen, Lina, Kaplan, Richard, Kap, Elisabeth J., Maughan, Timothy S., Potter, John D., Schoen, Robert E., Seminara, Daniela, Slattery, Martha L., West, Hannah, White, Emily, Peters, Ulrike and Newcomb, Polly A. 2016. Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis. Carcinogenesis 37 (1) , pp. 87-95. 10.1093/carcin/bgv161

Cheng, Timothy HT, Thompson, Deborah, Painter, Jodie, O?Mara, Tracy, Gorman, Maggie, Martin, Lynn, Palles, Claire, Jones, Angela, Buchanan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Giles, Graham G, Pharoah, Paul, Peto, Julian, Cox, Angela, Swerdlow, Anthony, Couch, Fergus, Cunningham, Julie M, Goode, Ellen L, Winham, Stacey J, Lambrechts, Diether, Fasching, Peter, Burwinkel, Barbara, Brenner, Hermann, Brauch, Hiltrud, Chang-Claude, Jenny, Salvesen, Helga B., Kristensen, Vessela, Darabi, Hatef, Li, Jingmei, Liu, Tao, Lindblom, Annika, Hall, Per, de Polanco, Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Aguiar Jnr, Samuel, Teixeira, Manuel R., Dunning, Alison M, Dennis, Joe, Otton, Geoffrey, Proietto, Tony, Holliday, Elizabeth, Attia, John, Ashton, Katie, Scott, Rodney J, McEvoy, Mark, Dowdy, Sean C, Fridley, Brooke L, Werner, Henrica MJ, Trovik, Jone, Njolstad, Tormund S, Tham, Emma, Mints, Miriam, Runnebaum, Ingo, Hillemanns, Peter, Dörk, Thilo, Amant, Frederic, Schrauwen, Stefanie, Hein, Alexander, Beckmann, Matthias W, Ekici, Arif, Czene, Kamila, Meindl, Alfons, Bolla, Manjeet K, Michailidou, Kyriaki, Tyrer, Jonathan P, Wang, Qin, Ahmed, Shahana, Healey, Catherine S, Shah, Mitul, Annibali, Daniela, Depreeuw, Jeroen, Al-Tassan, Nada A., Harris, Rebecca, Meyer, Brian F., Whiffin, Nicola, Hosking, Fay J, Kinnersley, Ben, Farrington, Susan M., Timofeeva, Maria, Tenesa, Albert, Campbell, Harry, Haile, Robert W., Hodgson, Shirley, Carvajal-Carmona, Luis, Cheadle, Jeremy Peter, Easton, Douglas, Dunlop, Malcolm, Houlston, Richard, Spurdle, Amanda and Tomlinson, Ian 2015. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Scientific Reports 5 , 17369. 10.1038/srep17369

Smith, Christopher G., Fisher, David, Harris, Rebecca, Maughan, Timothy Stanley, Phipps, Amanda I., Richman, Susan, Seymour, Matthew, Tomlinson, Ian, Rosmarin, Dan, Kerr, David, Chan, Andrew T., Peters, Ulrike, Newcombe, Polly A., Idziaszczyk, Shelley Alexis, West, Hannah, Meade, Angela, Kaplan, Richard and Cheadle, Jeremy Peter 2015. Analyses of 7,635 patients with colorectal cancer using independent training and validation cohorts show that rs9929218 in CDH1 is a prognostic marker of survival. Clinical Cancer Research 21 , p. 3453. 10.1158/1078-0432.CCR-14-3136
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Al-Tassan, Nada A., Whiffin, Nicola, Hosking, Fay J., Palles, Claire, Farrington, Susan M., Dobbins, Sara E., Harris, Rebecca, Gorman, Maggie, Tenesa, Albert, Meyer, Brian F., Wakil, Salma M., Kinnersley, Ben, Campbell, Harry, Martin, Lynn, Smith, Christopher G., Idziaszczyk, Shelley Alexis, Barclay, Ella, Maughan, Timothy Stanley, Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchannan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Dunlop, Malcolm G., Tomlinson, Ian P., Cheadle, Jeremy Peter and Houlston, Richard S. 2015. A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. Scientific Reports 5 , 10442. 10.1038/srep10442
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Venderbosch, S., Nagtegaal, I. D., Maughan, Timothy Stanley, Smith, C. G., Cheadle, Jeremy Peter, Fisher, D., Kaplan, R., Quirke, P., Seymour, M. T., Richman, S. D., Meijer, G. A., Ylstra, B., Heideman, D. A. M., de Haan, A. F. J., Punt, C. J. A. and Koopman, M. 2014. Mismatch repair status and BRAF mutation status in metastatic colorectal cancer patients: a pooled analysis of the CAIRO, CAIRO2, COIN, and FOCUS studies. Clinical Cancer Research 20 (20) , pp. 5322-5330. 10.1158/1078-0432.CCR-14-0332
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Smith, Christopher G., West, Hannah, Harris, Rebecca, Idziaszczyk, Shelley, Maughan, Timothy S., Kaplan, Richard, Richman, Susan, Quirke, Philip, Seymour, Matthew, Escott-Price, Valentina, Steinke, Verena, Propping, Peter, Hes, Frederik J., Wijnen, Juul and Cheadle, Jeremy 2014. Response. Journal of the National Cancer Institute 106 (5) , dju087. 10.1093/jnci/dju087

Smith, Chris, Fisher, D., Claes, B., Maughan, T. S., Idziaszczyk, Shelley Alexis, Peuteman, G., Harris, Rebecca, James, Michelle D., Meade, A., Jasani, Bharat, Adams, Richard Alexander, Kenny, S., Kaplan, R., Lambrechts, D. and Cheadle, Jeremy Peter 2013. Somatic profiling of the epidermal growth factor receptor pathway in tumors from patients with advanced colorectal cancer treated with chemotherapy ± cetuximab. Clinical Cancer Research 19 (15) , pp. 4104-4113. 10.1158/1078-0432.CCR-12-2581

Smith, Chris, West, Hannah, Harris, Rebecca, Idziaszczyk, Shelley Alexis, Maughan, Timothy Stanley, Kaplan, Richard, Richman, Susan, Quirke, Philip, Seymour, Matthew, Escott-Price, Valentina, Steinke, Verena, Propping, Peter, Hes, Frederik J., Wijnen, Juul and Cheadle, Jeremy P. 2013. Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. Journal of the National Cancer Institute 105 (16) , pp. 1249-1253. 10.1093/jnci/djt183

Smith, Chris, Naven, Marc, Harris, Rebecca, Colley, James, West, Hannah, Li, Ning, Liu, Yuan, Adams, Richard Alexander, Maughan, Timothy S., Nichols, Laura, Kaplan, Richard, Wagner, Michael J., McLeod, Howard L. and Cheadle, Jeremy Peter 2013. Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Human Mutation 34 (7) , pp. 1026-1034. 10.1002/humu.22333

Dunlop, Malcolm G., Dobbins, Sara E., Farrington, Susan Mary, Jones, Angela M., Palles, Claire, Whiffin, Nicola, Tenesa, Albert, Spain, Sarah, Broderick, Peter, Ooi, Li-Yin, Domingo, Enric, Smillie, Claire, Henrion, Marc, Frampton, Matthew, Martin, Lynn, Grimes, Graeme, Gorman, Maggie, Semple, Colin, Ma, Yusanne P., Barclay, Ella, Prendergast, James, Cazier, Jean-Baptiste, Olver, Bianca, Penegar, Steven, Lubbe, Steven, Chander, Ian, Carvajal-Carmona, Luis G., Ballereau, Stephane, Lloyd, Amy, Vijayakrishnan, Jayaram, Zgaga, Lina, Rudan, Igor, Theodoratou, Evropi, Thomas, Huw, Maher, Eamonn, Evans, Gareth, Walker, Lisa, Halliday, Dorothy, Lucassen, Anneke, Paterson, Joan, Hodgson, Shirley, Homfray, Tessa, Side, Lucy, Izatt, Louise, Donaldson, Alan, Tomkins, Susan, Morrison, Patrick, Brewer, Carole, Henderson, Alex, Davidson, Rosemarie, Murday, Victoria, Cook, Jaqueline, Haites, Neva, Bishop, Timothy, Sheridan, Eamonn, Green, Andrew, Marks, Christopher, Carpenter, Sue, Broughton, Mary, Greenhalge, Lynn, Suri, Mohnish, Starr, John M., Deary, Ian, Kirac, Iva, Kovacevi, Dujo, Aaltonen, Lauri A., Renkonen-Sinisalo, Laura, Mecklin, Jukka-Pekka, Matsuda, Koichi, Nakamura, Yusuke, Okada, Yukinori, Gallinger, Steven, Duggan, David J., Conti, David, Newcomb, Polly, Hopper, John, Jenkins, Mark A., Schumacher, Fredrick, Casey, Graham, Easton, Douglas, Shah, Mitul, Pharoah, Paul, Lindblom, Annika, Liu, Tao, Edler, David, Lenander, Claes, Dalén, Johan, Hjern, Fredrik, Lundqvist, Nils, Lindforss, Ulrik, Påhlman, Lars, Smedh, Kennet, Törnqvist, Anders, Holm, Jörn, Janson, Martin, Andersson, Magnus, Ekelund, Susanne, Olsson, Louise, Smith, Chris, West, Hannah, Cheadle, Jeremy Peter, MacDonald, Graham, Samuel, Leslie M., Ahmad, Athar, Corrie, Philippa, Jodrell, Duncan, Palmer, Cheryl, Wilson, Charles, O'Hagan, Julie, Smith, David, McDermott, Ray, Walshe, Janice, Cassidy, James, McDonald, Alec, Mohammed, Nazia, White, Jeff, Yosef, Hosney, Breathnach, Oscar, Grogan, Liam, Thomas, Robert, Eatock, Martin, Henry, Paul, Houston, Russell, Johnston, Patrick, Wilson, Richard, Geh, Ian, Danwata, Falalu, Hindley, Andrew, Susnerwala, Shabbir, Bradley, Chris, Conn, Andrew, Raine, Anne, Twelves, Chris, Falk, Stephen, Hopkins, Kirstin, Tahir, Saad, Dhadda, Amandeep, Maraveyas, Anthony, Sgouros, Joseph, Teo, Mark, Ahmad, Rizvana, Cleator, Susan, Creak, Antonia, Lowdell, Charles, Riddle, Philippa, Benstead, Kim, Farrugia, David, Reed, Nicholas, Shepherd, Stephen, Levine, Edward, Mullamitha, Saifee, Saunders, Mark, Valle, Juan, Wilson, Gregory, Jones, Adam, Weaver, Andrew, Clark, Peter I., Haylock, Brain, Iqbal, Mussawar I., Myint, Arthur S., Smith, David, Beesley, Sharon, Sevitt, Timothy, Nicoll, Jonathan, Daniel, Francis, Ford, Victoria, Talbot, Toby, Butt, Mohammad, Hamid, Abdel, Mack, Paul, Roy, Raj, Osborne, Richard, McKinna, Fiona, Alsab, Heidar, Basu, Devyanee, Murray, Phillip, Sizer, Bruce, Azam, Faisal A., Neupane, Rekha, Waterston, Ashita, Glaholm, John, Blesing, Claire, Lowndes, Sarah, Medisetti, Aruna, Gaya, Andrew, Leslie, Martin, Maisey, Nicholas, Ross, Paul, Dunn, Grainne, Al-Salihi, Omar, Wasan, Harpreet S., Palmer, Cheryl, Tan, Li Tee, Dent, Jo, Hofmann, Uschi, Joffe, Johnathan K., Sherwin, Elizabeth, Soomal, Rabinder, Chakrabarti, Amitabha, Joseph, Shibu, Van der Voet, Johannes, Wadd, Nicholas J., Wilson, David, Anjarwalia, Salim, Hall, Julia, Hughes, Rob, Polychronis, Andrew, Scarffe, John H., Hill, Mark, James, Rodger D., Shah, Riyaz, Summers, Jeffrey, Hartley, Andrew, Carney, Desmond, McCaffrey, John, Bystricky, Brano, O'Reilly, Seamus, Gupta, Rajnish, Al-Mishlab, Talib, Gidden, Fiona, O'Hara, Richard, Stewart, Jill, Ashford, Richard, Glynne-Jones, Robert, Harrison, Mark, Mawdsley, Suzannah, Barlow, Hilary, Tighe, Mary, Walther, Julie, Neal, Janet, Rees, Charlotte, Bridgewater, John, Karp, Stephen, McGovern, Ursula, Atherton, Philip J., El-deeb, Hany, Macmillan, Craig, Patel, Kinnari, Bessell, Eric Michael, Dickinson, Peter D., Potter, Vanessa, Jephcott, Catherine, McAdam, Karen, Wrigley, Jessica, Osborne, Richard, Muthuramalingam, Sethupathi, O'Callaghan, Anne, Bridgewater, John, Melcher, Lucinda, Braconi, Chiara, Geh, Ju Ian, Palmer, Dan, Narayana, Priya, Steven, Neil, Gaya, Andres, Maisey, Nicholas, Rudman, Sarah, Chakraborti, Prabir, Kelly, Kay, Macgregor, Carol, Whillis, David, Freebairn, Alice, Gildersleve, James, Sharif, Sahid, Astras, George, Hickish, Tamas, Beech, Darren, Ellis, Richard, Kulkarni, Rajendra, Shankland, K., Begent, Richard, Mayer, Astrid, Meyer, Timothy, Strauss, Sandra, Hall, Viriginia, Raj, Sanjay, Chau, Ian, Cunningham, David, Birtle, Alison, Biswas, Ashoke, Susnerwala, Shabbir, Wise, Marcus, Cummins, Sebastian, Essapen, Sharadah, Middleton, Gary, Topham, Claire, Langley, Ruth, McKinna, Fiona, Webb, Andrew, Wilkins, Marie, Iveson, Timothy John, Dhadda, Amandeep, Hamid, Abdel, Askill, Colin, Wagstaff, John, Azzabi, Ashraf, Bateman, Adrian, Prejbisz, Jan, Tsang, David, Ali, Nasim, Jones, Amanda, O'Neill, Paul, Cottrill, Christopher, Propper, David, Lofts, Fiona Jane, Kennedy, James, Anthoney, David A., Cooper, Rachel, Crellin, Adrian, Melcher, Alan, Seymour, Matthew, Baughan, Christopher, Alexander, Emma, Cleator, Susan, Crown, John, Fennelly, David, Adab, Fawzi, Giridharan, Selvaraj, Pedley, Ian, Wright, Kathryn, Bliss, Peter, Cogill, Geoffrey, Lo, Nangi, Toy, Elizabeth, Bridgewater, John, Hochhauser, Daniel, Ledermann, Jonathan, Brewster, A. E., Maughan, Timothy Stanley, Mort, Diana, Mukherjee, Somnath, Dobrowsky, Werner, Calvert, Paula, Leonard, Gregory, Ahmad, Rizvana, Ford, Hugo, Moody, Anne Margeret, Goriah, Sonia, Wilkins, Margeret, Clive, Sally, Dawson, Lesley, McLean, Catriona, Phillips, Hamish Andrew, Gopi, Kakumudi, Tomlinson, Marjorie, Clenton, Susan, Furniss, Debra, Hornbuckle, Joanne, Pledge, Simon, Wadsley, Jonathan, Abbas, Mohammed, Marshall, Ernest, Harper-Wynne, Catherine, Barnes, Anne, Kumar, Satish, Vigneswaran, Vallipuram, Farrugia, David, Webb, Andrew, Gollins, Simon, Falk, Stephen, Genton, M., Sparrow, Geoff, Bale, Catherine, Fuller, C., Mullard, Anna, Stuart, Nicholas, Williams, Rachel, Keane, Maccon, Maughan, Tim, Seymour, Matthew, Wilson, Richard, Wasan, Harpreet, Adams, Richard Alexander, Madi, Ayman, Cassidy, James, Kennedy, James, Hodgkinson, Elizabeth, Rogers, Penny, Pope, Malcolm, Kaplan, Rick, Meade, Angela, Parmar, Mahesh, Kenny, Sarah, Fisher, David, Harper, Lynda, Mitchell, Jena, Nichols, Laura, Sydes, Benjamin, Clement, Louise, Kay, Edward, Courtney, Cheryl, Gallagher, Madalena, Murphy, Claire, Thompson, Lindsay, Beall, Sarah, Hassan, Sharma, Gracie, Richard, Griffiths, Gareth O., Mason, Malcolm David, Parker, Chris, Rudd, Robin, Johnson, Patrick, Whelan, Jeremy, Northover, John, Brown, Julia, Aapro, Matti, Stout, Ronald, Midgley, Rachel, Kerr, David J., Campbell, Harry, Tomlinson, Ian P. and Houlston, Richard S. 2012. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk [Letter]. Nature Genetics 44 (7) , pp. 770-776. 10.1038/ng.2293

Houlston, Richard S., Cheadle, Jeremy Peter and Maughan, Timothy Stanley 2012. COGENT (COlorectal cancer GENeTics) revisited. Mutagenesis 27 (2) , pp. 143-151. 10.1093/mutage/ger059

Maughan, Timothyn Stanley, Adams, Richard Alexander, Smith, Chris, Meade, Angela M., Seymour, Matthew T., Wilson, Richard H., Idziaszczyk, Shelley Alexis, Harris, Rebecca, Fisher, David, Kenny, Sarah L., Kay, Edward, Mitchell, Jenna K., Madi, Ayman, Jasani, Bharat, James, Michelle D., Bridgewater, John, Kennedy, M. John, Claes, Bart, Lambrechts, Diether, Kaplan, Richard and Cheadle, Jeremy Peter 2011. Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial. The Lancet 377 (9783) , pp. 2103-2114. 10.1016/S0140-6736(11)60613-2

Spain, Sarah L., Carvajal-Carmona, Luis G., Howarth, Kimberley M., Jones, Angela M., Su, Zhan, Cazier, Jean-Baptiste, Williams, Jennet, Aaltonen, Lauri A., Pharoah, Paul, Kerr, David J., Cheadle, Jeremy Peter, Li, Li, Casey, Graham, Vodicka, Pavel, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Morreau, Hans, van Wezel, Tom, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Carracedo, Angel, Castells, Antoni, Castellvi-Bel, Sergi, Dunlop, Malcolm, Houlston, Richard S. and Tomlinson, Ian P. M. 2011. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Human Molecular Genetics 21 (4) , pp. 934-946. 10.1093/hmg/ddr523

Tomlinson, Ian P. M., Carvajal-Carmona, Luis G., Dobbins, Sara E., Tenesa, Albert, Jones, Angela M., Howarth, Kimberley, Palles, Claire, Broderick, Peter, Jaeger, Emma E. M., Farrington, Susan, Lewis, Annabelle, Prendergast, James G. D., Pittman, Alan M., Theodoratou, Evropi, Olver, Bianca, Walker, Marion, Penegar, Steven, Barclay, Ella, Whiffin, Nicola, Martin, Lynn, Ballereau, Stephane, Lloyd, Amy, Gorman, Maggie, Lubbe, Steven, Howie, Bryan, Marchini, Jonathan, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Castells, Antoni, Carracedo, Angel, Castellvi-Bel, Sergi, Duggan, David, Conti, David, Cazier, Jean-Baptiste, Campbell, Harry, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Gallinger, Steven, Newcomb, Polly, Hopper, John, Jenkins, Mark A., Aaltonen, Lauri A., Kerr, David J., Cheadle, Jeremy Peter, Pharoah, Paul, Casey, Graham, Houlston, Richard S. and Dunlop, Malcolm G. 2011. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genetics 7 (6) , e1002105. 10.1371/journal.pgen.1002105
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Houlston, Richard S, Cheadle, Jeremy Peter, Dobbins, Sara E., Tenesa, Albert, Jones, Angela M., Howarth, Kimberley, Spain, Sarah L., Broderick, Peter, Domingo, Enric, Farrington, Susan, Prendergast, James G. D., Pittman, Alan M., Theodoratou, Evi, Smith, Chris, Olver, Bianca, Walther, Axel, Barnetson, Rebecca A., Churchman, Michael, Jaeger, Emma E. M., Penegar, Steven, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Mager, Rachel, Johnstone, Elaine, Midgley, Rachel, Niittymäki, Iina, Tuupanen, Sari, Colley, James, Idziaszczyk, Shelley Alexis, Thomas, Huw J. W., Lucassen, Anneke M., Evans, D. Gareth R., Maher, Eamonn R., Maughan, Timothy Stanley, Dimas, Antigone, Dermitzakis, Emmanouil, Cazier, Jean-Baptiste, Aaltonen, Lauri A., Pharoah, Paul, Kerr, David J., Carvajal-Carmona, Luis G., Campbell, Harry, Dunlop, Malcolm G. and Tomlinson, Ian P. M. 2010. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 [Letter]. Nature Genetics 42 (11) , pp. 973-977. 10.1038/ng.670

Idziaszczyk, Shelley Alexis, Wilson, C. H., Smith, Chris, Adams, D. J. and Cheadle, Jeremy Peter 2010. Analysis of the frequency of GNAS codon 201 mutations in advanced colorectal cancer [Letter]. Cancer Genetics and Cytogenetics 202 (1) , pp. 67-69. 10.1016/j.cancergencyto.2010.04.023

Cheadle, Jeremy Peter 2010. MUTYH-associated polyposis. In: Rodriguez-Bigas, Miguel A., Cutait, Raul, Lynch, Patrick M., Tomlinson, Ian and Vasen, Hans F. A. eds. Hereditary Colorectal Cancer, M.D. Anderson Solid Tumor Oncology Series, vol. 5. New York: Springer, pp. 133-146.

Dallosso, Anthony Richard, Jones, Siân, Azzopardi, Duncan Lee, Escott-Price, Valentina, Al-Tassan, Nada A., Williams, Geraint Trefor, Idziaszczyk, Shelley Alexis, Davies, D. Rhodri, Milewski, Peter, Williams, Sally, Beynon, John, Sampson, Julian Roy and Cheadle, Jeremy Peter 2009. The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. Human Mutation 30 (10) , pp. 1412-1418. 10.1002/humu.21089

Bonnet, Cleo, Aldred, Mark, Von Ruhland, Christopher John, Harris, Rebecca, Sandford, Richard and Cheadle, Jeremy Peter 2009. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Human Molecular Genetics 18 (12) , pp. 2166-2176. 10.1093/hmg/ddp149

Cheadle, Jeremy Peter 2009. MUTYH-associated colorectal polyposis and cancer. In: Schwab, Manfred ed. Encyclopedia of Cancer. 2nd ed, Springer,

Tee, Andrew, Sampson, Julian Roy and Cheadle, Jeremy Peter 2009. Tuberous sclerosis complex. In: Schwab, Manfred ed. Encyclopedia of Cancer. 2nd ed, Springer,

University of Wales 2008. Screening methods and sequences relating thereto. US7393940B2. [Patent].

Azzopardi, Duncan Lee, Dallosso, Anthony Richard, Eliason, Kristilyn, Hendrickson, Brant C., Jones, Natalie, Rawstorne, Edward Charles, Colley, James, Escott-Price, Valentina, Frye, Cynthia, Sampson, Julian Roy, Wenstrup, Richard, Scholl, Thomas and Cheadle, Jeremy Peter 2008. Multiple rare nonsynonymous variants in the 'adenomatous polyposis coli' gene predispose to colorectal adenomas. Cancer Research 68 (2) , pp. 358-363. 10.1158/0008-5472.CAN-07-5733

Dallosso, Anthony Richard, Dolwani, Sunil, Jones, N., Jones, Sian, Colley, James, Maynard, Julie Helen, Idziaszczyk, Shelley Alexis, Humphreys, Vikki, Arnold, J., Donaldson, A., Eccles, D., Ellis, A., Evans, D. G., Frayling, Ian, Hes, F. J., Houlston, R S, Maher, E R, Nielsen, M, Parry, S, Tyler, E, Escott-Price, Valentina, Cheadle, Jeremy Peter and Sampson, Julian Roy 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57 (9) , pp. 1252-1255. 10.1136/gut.2007.145748

Payne, Y., Williams, M., Cheadle, Jeremy Peter, Stott, N. C. H., Rowlands, M., Shickle, D., West, G., Meredith, Linda, Goodchild, M., Harper, Peter Stanley and Clarke, Angus John 2008. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 51 (3) , pp. 153-163. 10.1111/j.1399-0004.1997.tb02445.x

Goorden, Susanna M. I., van Woerden, Geeske M., van der Weerd, Louise, Cheadle, Jeremy Peter and Elgersma, Ype 2007. Cognitive deficits inTsc1+/-mice in the absence of cerebral lesions and seizures. Annals of Neurology 62 (6) , pp. 648-655. 10.1002/ana.21317

Cheadle, Jeremy Peter and Sampson, Julian Roy 2007. MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing. DNA Repair 6 (3) , pp. 274-279. 10.1016/j.dnarep.2006.11.001

Dolwani, Sunil, Williams, Geraint Trefor, West, K.P., Newman, J., Stock, D., Williams, A.P., Best, J., Cheadle, Jeremy Peter and Sampson, Julian Roy 2007. Analysis of inherited MYH (MUTYH) mutations in British Asian patients with colorectal cancer [Letter]. Gut 56 (4) , p. 593. 10.1136/gut.2006.094532

Wilson, Catherine Helen, Bonnet, Cleo, Guy, Carol, Idziaszczyk, Shelley Alexis, Colley, James, Humphreys, Vikki, Maynard, Julie Helen, Sampson, Julian Roy and Cheadle, Jeremy Peter 2006. Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice. Cancer Research 66 (16) , pp. 7934-8. 10.1158/0008-5472.CAN-06-1740

Wilson, Catherine Helen, Idziaszczyk, Shelley Alexis, Colley, James, Humphreys, Vikki, Guy, Carol, Maynard, Julie Helen, Sampson, Julian Roy and Cheadle, Jeremy Peter 2005. Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background. Cancer Research 65 (22) , pp. 10179-10182. 10.1158/0008-5472.CAN-05-2688

Colley, James, Jones, Sian, Dallosso, Anthony R., Maynard, Julie Helen, Humphreys, Vikki, Dolwani, Sunil, Sampson, Julian Roy and Cheadle, Jeremy Peter 2005. Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software. Human Mutation 26 (2) , p. 165. 10.1002/humu.9354

Wilson, Catherine Helen, Idziaszczyk, Shelley Alexis, Parry, Lee, Guy, Carol, Griffiths, David Francis Rees, Lazda, Edgar Janis, Bayne, Rosemary A. L., Smith, Andrew J. H., Sampson, Julian Roy and Cheadle, Jeremy Peter 2005. A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Human Molecular Genetics 14 (13) , pp. 1839-1850. 10.1093/hmg/ddi190

Sampson, Julian Roy, Jones, Sian, Dolwani, Sunil and Cheadle, Jeremy Peter 2005. MutYH (MYH) and colorectal cancer. Biochemical Society Transactions 33 (4) , pp. 679-683. 10.1042/BST0330679

Bai, Haibo, Jones, Sian, Guan, Xin, Wilson, Teresa M., Sampson, Julian Roy, Cheadle, Jeremy Peter and Lu, A-Lien 2005. Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Research 33 (2) , pp. 597-604. 10.1093/nar/gki209

Fleischmann, Christina, Peto, Julian, Cheadle, Jeremy Peter, Shah, Bindiya, Sampson, Julian Roy and Houlston, Richard S. 2004. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International Journal of Cancer 109 (4) , pp. 554-558. 10.1002/ijc.20020

Jones, Sian, Lambert, S., Williams, Geraint Trevor, Best, J. M., Sampson, Julian Roy and Cheadle, Jeremy Peter 2004. Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. British Journal of Cancer 90 (8) , pp. 1591-1593. 10.1038/sj.bjc.6601747
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Al-Tassan, Nada, Eisen, Tim, Maynard, Julie Helen, Bridle, Helen, Shah, Bindiya, Fleischmann, Christina, Sampson, Julian Roy, Cheadle, Jeremy Peter and Houlston, Richard S. 2004. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Human Genetics 114 (2) , pp. 207-210. 10.1007/s00439-003-1033-2

Kwiatkowski, D.J., Reeve, M. P., Cheadle, Jeremy Peter and Sampson, Julian Roy 2003. Molecular genetics. In: Curatolo, Paolo ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes, International Review of Child Neurology (Mac Keith Press), Cambridge: Cambridge University Press, pp. 228-263.

Cheadle, Jeremy Peter and Sampson, Julian Roy 2003. Exposing the MYtH about base excision repair and human inherited disease. Human Molecular Genetics 12 (s2) , R159-R165. 10.1093/hmg/ddg259

Sampson, Julian Roy, Dolwani, Sunil, Jones, Sian, Eccles, Diana, Ellis, Anthony, Evans, D. Gareth, Frayling, Ian Martin, Jordan, Sheila, Maher, Eamonn R., Mak, Tony, Maynard, Julie Helen, Pigatto, Francesca, Shaw, Joan and Cheadle, Jeremy Peter 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 362 (9377) , pp. 39-41. 10.1016/S0140-6736(03)13805-6

Gill, Hefin, Cheadle, Jeremy Peter, Maynard, Julie Helen, Fleming, Nick, Whatley, Sharon D., Cranston, T, Thompson, E M, Leonard, H, Davis, M, Christodoulou, J, Skjeldal, O, Hanefeld, F, Kerr, A, Tandy, A, Ravine, D. and Clarke, Angus John 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40 (5) , pp. 380-384. 10.1136/jmg.40.5.380

Cheadle, Jeremy Peter, Dolwani, Sunil and Sampson, Julian Roy 2003. Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma [Letter]. Carcinogenesis 24 (7) , pp. 1281-1282. 10.1093/carcin/bgg068

Emmerson, Paul, Maynard, Julie Helen, Jones, Sian, Butler, Rachel, Sampson, Julian Roy and Cheadle, Jeremy Peter 2003. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Human Mutation 21 (2) , pp. 112-115. 10.1002/humu.10159

Cheadle, Jeremy Peter and Sampson, J. 2003. Tuberous sclerosis: genetics. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, London: Nature Publishing Group, pp. 650-656.

Jones, Sian, Emmerson, Paul, Maynard, Julie Helen, Best, Jacqueline M., Jordan, Sheila, Williams, Geraint Trefor, Sampson, Julian Roy and Cheadle, Jeremy Peter 2002. Biallelic germline mutations in MYH predispose to multiple colorectal ademona and somatic G:C to T:A mutations. Human Molecular Genetics 11 (23) , pp. 2961-2967. 10.1093/hmg/11.23.2961

Al-Tassan, Nada, Chmiel, Nikolas H., Maynard, Julie Helen, Fleming, Nick, Livingston, Alison L., Williams, Geraint Trefor, Hodges, Angela Kaye, Davies, D.Rhodri, David, Sheila S., Sampson, Julian Roy and Cheadle, Jeremy Peter 2002. Inherited variants of MYH associated with somatic G:C to T:A mutations in colorectal tumors. Nature Genetics 30 (2) , pp. 227-32. 10.1038/ng828

Cheadle, Jeremy Peter, Krawczak, Michael, Thomas, Meinir W, Hodges, Angela Kaye, Al-Tassan, Nada, Fleming, Nick and Sampson, Julian Roy 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62 , pp. 363-366.

Cheadle, Jeremy Peter, Krawczak, Michael, Thomas, Meinir W., Hodges, Angela Kaye, Al-Tassan, Nada, Fleming, Nick and Sampson, Julian Roy 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62 (2) , pp. 363-366.

Antonarakis, Emmanuel S., Sampson, Julian Roy and Cheadle, Jeremy Peter 2002. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51 (2) , pp. 161-164. 10.1016/S0165-022X(02)00011-8

Hodges, Angela K., Li, Shaowei, Maynard, Julie Helen, Parry, Lee, Braverman, Richard, DeClue, Jeffrey E., Cheadle, Jeremy Peter and Sampson, Julian Roy 2001. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Human Molecular Genetics 10 (25) , pp. 2899-9205. 10.1093/hmg/10.25.2899

Parry, Lee, Maynard, Julie Helen, Patel, A., Clifford, S. C., Morrissey, C., Maher, E. R., Cheadle, Jeremy Peter and Sampson, Julian Roy 2001. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British Journal of Cancer 85 , pp. 1226-1230. 10.1054/bjoc.2001.2072

Soucek, Thomas, Rosner, Margit, Miloloza, Angelina, Kubista, Marion, Cheadle, Jeremy Peter, Sampson, Julian Roy and Hengstschläger, Markus 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20 (35) , pp. 4904-4909.

Jones, Alistair C., Sampson, Julian Roy and Cheadle, Jeremy Peter 2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Human Mutation 17 (3) , pp. 233-234. 10.1002/humu.8

Fleming, Nick, Maynard, Julie H., Tzitzis, Loukas, Sampson, Julian Roy and Cheadle, Jeremy Peter 2001. LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. Journal of Biochemical and Biophysical Methods 47 (1-2) , pp. 131-136. 10.1016/S0165-022X(00)00159-7

Benvenuto, Giovanna, Li, Shaowei, Brown, Samantha J., Braverman, Richard, Vass, William C., Cheadle, Jeremy Peter, Halley, Dicky J. J., Sampson, Julian Roy, Wienecke, Ralf and DeClue, Jeffrey E. 2000. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19 (54) , pp. 6306-6316. 10.1038/sj.onc.1204009

Cheadle, Jeremy Peter, Dobbie, Lorraine, Idziaszczyk, Shelley, Hodges, Angela Kaye, Smith, Andrew J.H., Sampson, Julian Roy and Young, Janet 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11 (12) , pp. 1135-1138. 10.1007/s003350010203

Lamlum, Hanan, Al-Tassan, Nada A., Jaeger, Emma, Frayling, Ian Martin, Sieber, Oliver, Bin Reza, Faisal, Eckert, Maria, Rowan, Andrew, Barclay, Ella, Atkin, Wendy, Williams, Christopher, Gilbert, John, Cheadle, Jeremy Peter, Bell, Jennie, Houlston, Richard, Bodmer, Walter, Sampson, Julian Roy and Tomlinson, Ian 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9 (15) , pp. 2215-2221.

Cheadle, Jeremy Peter, Reeve, Mary Pat, Sampson, Julian Roy and Kwiatkowski, David J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107 (2) , pp. 97-114. 10.1007/s004390000348

Jones, Alistair C., Sampson, Julian Roy, Hoogendoorn, Bastiaan, Cohen, David and Cheadle, Jeremy Peter 2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Human Genetics 106 (6) , pp. 663-668. 10.1007/s004390000316

Parry, Lee, Maynard, Julie Helen, Patel, Amit, Hodges, Angela, von Deimling, Andreas, Sampson, Julian Roy and Cheadle, Jeremy Peter 2000. Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Human Genetics 107 (4) , pp. 350-356. 10.1007/s004390000390

Cheadle, Jeremy Peter, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy and Clarke, Angus John 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9 (7) , pp. 1119-1129. 10.1093/hmg/9.7.1119

Jones, Alistair C., Austin, Jehannine, Hansen, Nancy, Hoogendoorn, Bastiaan, Oefner, Peter J., Cheadle, Jeremy Peter and O'Donovan, Michael Conlon 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clinical Chemistry 45 (8) , pp. 1133-1140.

Jones, Alistair C., Shyamsundar, Magitha M., Thomas, Meinir W., Maynard, Julie Helen, Idziaszczyk, Shelley, Tomkins, Susan, Sampson, Julian Roy and Cheadle, Jeremy Peter 1999. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. American Journal of Human Genetics 64 (5) , pp. 1305-1315. 10.1086/302381

van Slegtenhorst, M., Nellist, M., Nagelkerken, B., Cheadle, Jeremy Peter, Snell, Russell, van den Ouweland, Ans, Reuser, Arnold, Sampson, Julian Roy, Halley, D. and van der Sluijs, Peter 1998. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human Molecular Genetics 7 (6) , pp. 1053-1057. 10.1093/hmg/7.6.1053

Jones, Alistair C., Daniells, Claire E., Snell, Russell G., Tachataki, Maria, Idziaszczyk, Shelley Alexis, Krawczak, Michael, Sampson, Julian Roy and Cheadle, Jeremy Peter 1997. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human Molecular Genetics 6 (12) , pp. 2155-2161. 10.1093/hmg/6.12.2155

Sampson, Julian R., Maheshwar, Magitha M., Aspinwall, Richard, Thompson, Peter, Cheadle, Jeremy P, Ravine, David, Roy, Sushmita, Haan, Eric, Bernstein, Jay and Harris, Peter C. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61 (4) , pp. 843-851. 10.1086/514888

Maheshwar, Magitha M., Cheadle, Jeremy Peter, Jones, Alistair C., Myring, Jenny, Fryer, Alan E., Harris, Peter C. and Sampson, Julian Roy 1997. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human Molecular Genetics 6 (11) , pp. 1991-1996. 10.1093/hmg/6.11.1991

Kobayashi, Toshiyuki, Urakami, Shinji, Cheadle, Jeremy Peter, Aspinwall, Richard, Harris, Peter, Sampson, Julian Roy and Hino, Okio 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8 (8) , pp. 554-558. 10.1007/s003359900502

van Slegtenhorst, Marjon, de Hoogt, Ronald, Hermans, Caroline, Nellist, Mark, Janssen, Bart, Verhoef, Senno, Lindhout, Dick, van den Ouwenland, Ans, Halley, Dicky, Young, Janet, Burley, Mariwyn, Jeremiah, Steve, Woodward, Karen, Nahmias, Joseph, Fox, Margaret, Ekong, Rosemary, Osborne, John, Wolfe, Jonathan, Povey, Sue, Snell, Russell G., Cheadle, Jeremy Peter, Jones, Alistair C., Tachataki, Maria, Ravine, David, Sampson, Julian Roy, Reeve, Mary Pat, Richardson, Paul, Wilmer, Friederike, Munro, Cheryl, Hawkins, Trevor L., Sepp, Tiina, Ali, Johari B. M., Ward, Susannah, Green, Andrew J., Yates, John R. W., Kwiatkowska, Jolanta, Henske, Elizabeth P., Short, M. Priscilla, Haines, Jonathan H., Jowziak, Sergiusz and Kwiatkowski, David J. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 (5327) , pp. 805-808. 10.1126/science.277.5327.805

Aspinwall, Richard, Rothwell, Dominic G., Roldan- Arjona, Teresa, Anselmino, Catherine, Ward, Christopher J., Cheadle, Jeremy Peter, Sampson, Julian Roy, Lindahl, Thomas, Harris, Peter C. and Hickson, Ian D. 1997. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease  III. Proceedings of the National Academy of Sciences of the United States of America 94 (1) , pp. 109-114.

Maheshwar, Magitha M., Sandford, Richard, Nellist, Mark, Cheadle, Jeremy Peter, Sgotto, Barbara, Vaudin, Mark and Sampson, Julian Roy 1996. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human Molecular Genetics 5 (1) , pp. 131-137. 10.1093/hmg/5.1.131

Cheadle, Jeremy Peter, Meredith, Alison L., Millar-Jones, Lynne and Goodchild, Mary C. 1995. Two CF patients, one homozygous for the 621 + 1G>T splice mutation, the other homozygous for the 1898 + 1G>A splice mutation [Letter]. Journal of Medical Genetics 32 (2) , p. 158. 10.1136/jmg.32.2.158

Cheadle, Jeremy Peter and Shaw, D. J. 1995. The cystic fibrosis gene: cloning and characterisation. In: Shaw, D. J. ed. Molecular genetics of human inherited disease, Chichester: Wiley, pp. 41-68.

Schwarz, Martin J., Malone, Geraldine M., Haworth, Andrea, Cheadle, Jeremy Peter, Meredith, Alison Linda, Gardner, Anne, Sawyer, I. Hilary, Connarty, Margaret, Dennis, Nick, Seller, Anneke, Harris, Ann, Taylor, Rohan, Dear, Simon, Middleton-Price, Helen, McMahon, Cathie, Mayall, Ed, McMahon, Rob, Barton, David E., Giles, Martin, Lindley, Victoria, Plaha, Davinder S., Price, Susan, Sharif, Abid, Cross, Gareth S., Dalton, Ann, Taylor, Graham, Wallace, Andrew, Tassabehji, Mayada, Whittaker, Joanne L., Butler, Rachel, Curtis, Ann, Pinkett, Ros, Gilfillan, Annette J., Brock, David J. H., Higgins, G. Scott, Lanyon, George, Miedzybrodzka, Zosia, Davidson, Mark, Graham, Colin A. and Hill, Alison J. M. 1995. Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories. Human Mutation 6 (4) , pp. 326-333. 10.1002/humu.1380060406

James, C, Houlihan, G. D., Snell, Russell G., Cheadle, Jeremy Peter and Harper, Peter Stanley 1994. Late-onset Huntington's Disease: a clinical and molecular study. Age and Ageing 23 (6) , pp. 445-448. 10.1093/ageing/23.6.445

Cheadle, Jeremy Peter, Belloni, Elena, Ferrari, Maurizio, Millar-Jones, Lynne and Meredith, Alison Linda 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Human Molecular Genetics 3 (8) , pp. 1431-1432. 10.1093/hmg/3.8.1431

Cheadle, Jeremy Peter 1994. Population variation of common cystic fibrosis mutations. Human Mutation 4 (3) , pp. 167-177. 10.1002/humu.1380040302

Cheadle, Jeremy P., AI-Jader, Layla N. and Meredith, Alison L. 1993. Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2 (3) , pp. 317-319. 10.1093/hmg/2.3.317

MacMillan, J. C., Snell, R. G., Tyler, A., Houlihan, G. D., Fenton, I., Cheadle, Jeremy Peter, Lazarou, L. P., Shaw, J. D. and Harper, Peter Stanley 1993. Molecular analysis and clinical correlations of the Huntington's disease mutation. The Lancet 342 (8877) , pp. 954-958. 10.1016/0140-6736(93)92002-B

Cheadle, Jeremy Peter, Goodchild, Mary C. and Meredith, Alison L. 1993. Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales. Human Molecular Genetics 2 (10) , pp. 1551-1556. 10.1093/hmg/2.10.1551

Snell, Russell G., MacMillan, John C., Cheadle, Jeremy Peter, Fenton, Iain, Lazarou, Lazarus P., Davies, Peter, MacDonald, Marcy E., Gusella, James F., Harper, Peter Stanley and Shaw, Duncan J. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 4 (4) , pp. 393-397. 10.1038/ng0893-393

Cheadle, Jeremy Peter, Al-Jader, Layla N. and Meredith, Alison L. 1993. A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2 (7) , pp. 1067-1068. 10.1093/hmg/2.7.1067

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This list was generated on Fri Dec 14 03:34:30 2018 GMT.